Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
353 | APRT | adenine phosphoribosyltransferase | |
1497 | CTNS | cystinosin, lysosomal cystine transporter | |
1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
2878 | GPX3 | glutathione peroxidase 3 | |
3958 | LGALS3 | galectin 3 | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
6514 | SLC2A2 | solute carrier family 2 member 2 |
HPO ID | HPO Term |
---|---|
HP:0002857 | Genu valgum |
HP:0002909 | Generalized aminoaciduria |
HP:0002917 | Hypomagnesemia |
HP:0003016 | Metaphyseal widening |
HP:0003198 | Myopathy |
HP:0003202 | Skeletal muscle atrophy |
HP:0003234 | Decreased circulating carnitine concentration |
HP:0003251 | Male infertility |
HP:0003358 | Elevated intracellular cystine |
HP:0003593 | Infantile onset |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024